ea0013p292 | Thyroid | SFEBES2007
Gavalas Nikos
, Kemp Elizabeth
, Krohn Kai
, Brown Edward
, Watson Philip
, Weetman Anthony
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. Major disease components include mucocutaneous candidiasis, hypoparathyroidism and Addisons disease. Acquired hypoparathyroidism (AH) occurs in 80% of APS1 patients and is associated with hypocalcaemia, hyperphosphataemia and low serum levels of parathyroid hormone (PTH). Reports suggest that these clinical symptoms are initiated by...